Please use this identifier to cite or link to this item: https://doi.org/10.1038/s41598-019-50805-w
Title: Identification of somatic alterations in lipoma using whole exome sequencing
Authors: Kanojia, Deepika 
Dakle, Pushkar 
Mayakonda, Anand 
Parameswaran, Rajeev 
Puhaindran, Mark E 
Min, Victor Lee Kwan 
Madan, Vikas 
Koeffler, Phillip 
Keywords: Science & Technology
Multidisciplinary Sciences
Science & Technology - Other Topics
MUTATIONAL SIGNIFICANCE
FEATURES
Issue Date: 7-Oct-2019
Publisher: NATURE PUBLISHING GROUP
Citation: Kanojia, Deepika, Dakle, Pushkar, Mayakonda, Anand, Parameswaran, Rajeev, Puhaindran, Mark E, Min, Victor Lee Kwan, Madan, Vikas, Koeffler, Phillip (2019-10-07). Identification of somatic alterations in lipoma using whole exome sequencing. SCIENTIFIC REPORTS 9 (1). ScholarBank@NUS Repository. https://doi.org/10.1038/s41598-019-50805-w
Abstract: © 2019, The Author(s). Lipomas are benign fatty tumors with a high prevalence rate, mostly found in adults but have a good prognosis. Until now, reason for lipoma occurrence not been identified. We performed whole exome sequencing to define the mutational spectrum in ten lipoma patients along with their matching control samples. We presented genomic insight into the development of lipomas, the most common benign tumor of soft tissue. Our analysis identified 412 somatic variants including missense mutations, splice site variants, frameshift indels, and stop gain/lost. Copy number variation analysis highlighted minor aberrations in patients. Kinase genes and transcriptions factors were among the validated mutated genes critical for cell proliferation and survival. Pathway analysis revealed enrichment of calcium, Wnt and phospholipase D signaling in patients. In conclusion, whole exome sequencing in lipomas identified mutations in genes with a possible role in development and progression of lipomas.
Source Title: SCIENTIFIC REPORTS
URI: https://scholarbank.nus.edu.sg/handle/10635/162080
ISSN: 20452322
20452322
DOI: 10.1038/s41598-019-50805-w
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